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Items: 1 to 50 of 208

1.

Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family-The Role of Next Generation Sequencing in Neuromuscular Disorders.

von der Hagen M, Becker LL, Wienker TF, Smitka M, Musante L, Ropers HH, Huebner A, Hu H, Kaindl AM.

Neuropediatrics. 2019 Oct 18. doi: 10.1055/s-0039-1695787. [Epub ahead of print]

PMID:
31627234
2.

The RNA Helicase DDX6 Controls Cellular Plasticity by Modulating P-Body Homeostasis.

Di Stefano B, Luo EC, Haggerty C, Aigner S, Charlton J, Brumbaugh J, Ji F, Rabano Jiménez I, Clowers KJ, Huebner AJ, Clement K, Lipchina I, de Kort MAC, Anselmo A, Pulice J, Gerli MFM, Gu H, Gygi SP, Sadreyev RI, Meissner A, Yeo GW, Hochedlinger K.

Cell Stem Cell. 2019 Sep 27. pii: S1934-5909(19)30385-6. doi: 10.1016/j.stem.2019.08.018. [Epub ahead of print]

PMID:
31588046
3.

Homozygous deletion of the entire AAAS gene in a triple A syndrome patient.

Koehler K, Hackmann K, Landgraf D, Schubert T, Shakiba M, Kariminejad A, Huebner A.

Eur J Med Genet. 2019 Jul;62(7):103665. doi: 10.1016/j.ejmg.2019.05.004. Epub 2019 May 6.

PMID:
31071487
4.

Early Hearing Loss upon Disruption of Slc4a10 in C57BL/6 Mice.

Huebner AK, Maier H, Maul A, Nietzsche S, Herrmann T, Praetorius J, Hübner CA.

J Assoc Res Otolaryngol. 2019 Jun;20(3):233-245. doi: 10.1007/s10162-019-00719-1. Epub 2019 Apr 18.

PMID:
31001720
5.

Age-specific pediatric reference intervals for plasma free normetanephrine, metanephrine, 3-methoxytyramine and 3-O-methyldopa: Particular importance for early infancy.

Peitzsch M, Mangelis A, Eisenhofer G, Huebner A.

Clin Chim Acta. 2019 Jul;494:100-105. doi: 10.1016/j.cca.2019.03.1620. Epub 2019 Mar 20.

PMID:
30904545
6.

Triple A patient cells suffering from mitotic defects fail to localize PGRMC1 to mitotic kinetochore fibers.

Jühlen R, Landgraf D, Huebner A, Koehler K.

Cell Div. 2018 Nov 10;13:8. doi: 10.1186/s13008-018-0041-5. eCollection 2018.

7.

A Continuous a-Stratification Index for Item Exposure Control in Computerized Adaptive Testing.

Huebner A, Wang C, Daly B, Pinkelman C.

Appl Psychol Meas. 2018 Oct;42(7):523-537. doi: 10.1177/0146621618758289. Epub 2018 Mar 21.

8.

Reduced MEK inhibition preserves genomic stability in naive human embryonic stem cells.

Di Stefano B, Ueda M, Sabri S, Brumbaugh J, Huebner AJ, Sahakyan A, Clement K, Clowers KJ, Erickson AR, Shioda K, Gygi SP, Gu H, Shioda T, Meissner A, Takashima Y, Plath K, Hochedlinger K.

Nat Methods. 2018 Sep;15(9):732-740. doi: 10.1038/s41592-018-0104-1. Epub 2018 Aug 20.

9.

Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation.

Chamova T, Bichev S, Todorov T, Gospodinova M, Taneva A, Kastreva K, Zlatareva D, Krupev M, Hadjiivanov R, Guergueltcheva V, Grozdanova L, Tzoneva D, Huebner A, V der Hagen M, Schoser B, Lochmüller H, Todorova A, Tournev I.

Neuromuscul Disord. 2018 Aug;28(8):625-632. doi: 10.1016/j.nmd.2018.05.005. Epub 2018 May 17.

PMID:
29935994
10.

An Intermediate Pluripotent State Controlled by MicroRNAs Is Required for the Naive-to-Primed Stem Cell Transition.

Du P, Pirouz M, Choi J, Huebner AJ, Clement K, Meissner A, Hochedlinger K, Gregory RI.

Cell Stem Cell. 2018 Jun 1;22(6):851-864.e5. doi: 10.1016/j.stem.2018.04.021. Epub 2018 May 24.

11.

Direct Reprogramming of Mouse Fibroblasts into Functional Skeletal Muscle Progenitors.

Bar-Nur O, Gerli MFM, Di Stefano B, Almada AE, Galvin A, Coffey A, Huebner AJ, Feige P, Verheul C, Cheung P, Payzin-Dogru D, Paisant S, Anselmo A, Sadreyev RI, Ott HC, Tajbakhsh S, Rudnicki MA, Wagers AJ, Hochedlinger K.

Stem Cell Reports. 2018 May 8;10(5):1505-1521. doi: 10.1016/j.stemcr.2018.04.009.

12.

Compensation for chronic oxidative stress in ALADIN null mice.

Jühlen R, Peitzsch M, Gärtner S, Landgraf D, Eisenhofer G, Huebner A, Koehler K.

Biol Open. 2018 Jan 23;7(1). pii: bio030742. doi: 10.1242/bio.030742.

13.

"Crying without tears" as an early diagnostic sign-post of triple A (Allgrove) syndrome: two case reports.

Tibussek D, Ghosh S, Huebner A, Schaper J, Mayatepek E, Koehler K.

BMC Pediatr. 2018 Jan 15;18(1):6. doi: 10.1186/s12887-017-0973-y.

14.

Phenotype-genotype spectrum of AAA syndrome from Western India and systematic review of literature.

Patt H, Koehler K, Lodha S, Jadhav S, Yerawar C, Huebner A, Thakkar K, Arya S, Nair S, Goroshi M, Ganesh H, Sarathi V, Lila A, Bandgar T, Shah N.

Endocr Connect. 2017 Nov;6(8):901-913. doi: 10.1530/EC-17-0255.

15.

Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations.

Shima H, Koehler K, Nomura Y, Sugimoto K, Satoh A, Ogata T, Fukami M, Jühlen R, Schuelke M, Mohnike K, Huebner A, Narumi S.

J Med Genet. 2018 Feb;55(2):81-85. doi: 10.1136/jmedgenet-2017-105020. Epub 2017 Nov 24.

PMID:
29175836
16.

The independent loss model with ordered insertions for the evolution of CRISPR spacers.

Baumdicker F, Huebner AMI, Pfaffelhuber P.

Theor Popul Biol. 2018 Feb;119:72-82. doi: 10.1016/j.tpb.2017.11.001. Epub 2017 Nov 22.

PMID:
29174635
17.

Use of Mental Health Services by Adolescents After Traumatic Brain Injury: A Secondary Analysis of a Randomized Controlled Trial.

Huebner ARS, Cassedy A, Brown TM, Taylor HG, Stancin T, Kirkwood MW, Wade SL.

PM R. 2018 May;10(5):462-471. doi: 10.1016/j.pmrj.2017.10.004. Epub 2017 Oct 31.

18.

ALADIN is required for the production of fertile mouse oocytes.

Carvalhal S, Stevense M, Koehler K, Naumann R, Huebner A, Jessberger R, Griffis ER.

Mol Biol Cell. 2017 Sep 15;28(19):2470-2478. doi: 10.1091/mbc.E16-03-0158. Epub 2017 Aug 2.

19.

Prolonged Mek1/2 suppression impairs the developmental potential of embryonic stem cells.

Choi J, Huebner AJ, Clement K, Walsh RM, Savol A, Lin K, Gu H, Di Stefano B, Brumbaugh J, Kim SY, Sharif J, Rose CM, Mohammad A, Odajima J, Charron J, Shioda T, Gnirke A, Gygi S, Koseki H, Sadreyev RI, Xiao A, Meissner A, Hochedlinger K.

Nature. 2017 Aug 10;548(7666):219-223. doi: 10.1038/nature23274. Epub 2017 Jul 26.

20.

Triple A Syndrome: Preliminary Response to the Antioxidant N-Acetylcysteine Treatment in a Child.

Fragoso MCBV, Albuquerque EVA, Cardoso ALA, da Rosa PWL, de Paulo RB, Schimizu MHM, Seguro AC, Passarelli M, Koehler K, Huebner A, Almeida MQ, Latronico AC, Arnhold IJP, Mendonca BB.

Horm Res Paediatr. 2017;88(2):167-171. doi: 10.1159/000465520. Epub 2017 Apr 10.

PMID:
28395280
21.

DUSP9 Modulates DNA Hypomethylation in Female Mouse Pluripotent Stem Cells.

Choi J, Clement K, Huebner AJ, Webster J, Rose CM, Brumbaugh J, Walsh RM, Lee S, Savol A, Etchegaray JP, Gu H, Boyle P, Elling U, Mostoslavsky R, Sadreyev R, Park PJ, Gygi SP, Meissner A, Hochedlinger K.

Cell Stem Cell. 2017 May 4;20(5):706-719.e7. doi: 10.1016/j.stem.2017.03.002. Epub 2017 Mar 30.

22.

Characteristics of Pediatric vs Adult Pheochromocytomas and Paragangliomas.

Pamporaki C, Hamplova B, Peitzsch M, Prejbisz A, Beuschlein F, Timmers HJLM, Fassnacht M, Klink B, Lodish M, Stratakis CA, Huebner A, Fliedner S, Robledo M, Sinnott RO, Januszewicz A, Pacak K, Eisenhofer G.

J Clin Endocrinol Metab. 2017 Apr 1;102(4):1122-1132. doi: 10.1210/jc.2016-3829.

23.

Intercalated Cell Depletion and Vacuolar H+-ATPase Mistargeting in an Ae1 R607H Knockin Model.

Mumtaz R, Trepiccione F, Hennings JC, Huebner AK, Serbin B, Picard N, Ullah AKMS, Păunescu TG, Capen DE, Lashhab RM, Mouro-Chanteloup I, Alper SL, Wagner CA, Cordat E, Brown D, Eladari D, Hübner CA.

J Am Soc Nephrol. 2017 May;28(5):1507-1520. doi: 10.1681/ASN.2016020169. Epub 2016 Dec 8.

24.

Portable mTBI Assessment Using Temporal and Frequency Analysis of Speech.

Daudet L, Yadav N, Perez M, Poellabauer C, Schneider S, Huebner A.

IEEE J Biomed Health Inform. 2017 Mar;21(2):496-506. doi: 10.1109/JBHI.2016.2633509. Epub 2016 Dec 1.

PMID:
27913365
25.

Identification of a novel putative interaction partner of the nucleoporin ALADIN.

Jühlen R, Landgraf D, Huebner A, Koehler K.

Biol Open. 2016 Nov 15;5(11):1697-1705. doi: 10.1242/bio.021162.

26.

A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima.

Koehler K, Milev MP, Prematilake K, Reschke F, Kutzner S, Jühlen R, Landgraf D, Utine E, Hazan F, Diniz G, Schuelke M, Huebner A, Sacher M.

J Med Genet. 2017 Mar;54(3):176-185. doi: 10.1136/jmedgenet-2016-104108. Epub 2016 Oct 5.

PMID:
27707803
27.

Neurocognitive outcomes in congenital diaphragmatic hernia survivors: a cross-sectional prospective study.

Bojanić K, Grubić M, Bogdanić A, Vuković J, Weingarten TN, Huebner AR, Sprung J, Schroeder DR, Grizelj R.

J Pediatr Surg. 2016 Oct;51(10):1627-34. doi: 10.1016/j.jpedsurg.2016.05.011. Epub 2016 Jun 1.

PMID:
27519557
28.

Sox2 Suppresses Gastric Tumorigenesis in Mice.

Sarkar A, Huebner AJ, Sulahian R, Anselmo A, Xu X, Flattery K, Desai N, Sebastian C, Yram MA, Arnold K, Rivera M, Mostoslavsky R, Bronson R, Bass AJ, Sadreyev R, Shivdasani RA, Hochedlinger K.

Cell Rep. 2016 Aug 16;16(7):1929-41. doi: 10.1016/j.celrep.2016.07.034. Epub 2016 Aug 4.

30.

The ClC-K2 Chloride Channel Is Critical for Salt Handling in the Distal Nephron.

Hennings JC, Andrini O, Picard N, Paulais M, Huebner AK, Cayuqueo IK, Bignon Y, Keck M, Cornière N, Böhm D, Jentsch TJ, Chambrey R, Teulon J, Hübner CA, Eladari D.

J Am Soc Nephrol. 2017 Jan;28(1):209-217. doi: 10.1681/ASN.2016010085. Epub 2016 Jun 22.

31.

A Comparative Case Study of Risk, Resiliency, and Coping Among Injured National Guard.

Gorman LA, Huebner AJ, Hirschfeld MK, Sankar S, Blow AJ, Guty D, Kees M, Ketner JS.

Mil Med. 2016 May;181(5 Suppl):70-6. doi: 10.7205/MILMED-D-15-00126.

PMID:
27168555
32.

Lce1 Family Members Are Nrf2-Target Genes that Are Induced to Compensate for the Loss of Loricrin.

Ishitsuka Y, Huebner AJ, Rice RH, Koch PJ, Speransky VV, Steven AC, Roop DR.

J Invest Dermatol. 2016 Aug;136(8):1656-1663. doi: 10.1016/j.jid.2016.04.022. Epub 2016 May 7.

33.

On Computing the Key Probability in the Stochastically Curtailed Sequential Probability Ratio Test.

Huebner AR, Finkelman MD.

Appl Psychol Meas. 2016 Mar;40(2):142-156. doi: 10.1177/0146621615611633. Epub 2015 Oct 27.

34.

Deubiquitylation of Protein Cargo Is Not an Essential Step in Exosome Formation.

Huebner AR, Cheng L, Somparn P, Knepper MA, Fenton RA, Pisitkun T.

Mol Cell Proteomics. 2016 May;15(5):1556-71. doi: 10.1074/mcp.M115.054965. Epub 2016 Feb 16.

35.

Novel Mutations in a Patient with Triple A Syndrome.

Sanghvi J, Asati AA, Kumar R, Huebner A.

Indian Pediatr. 2015 Sep;52(9):805-6.

36.

Item exposure control for multidimensional computer adaptive testing under maximum likelihood and expected a posteriori estimation.

Huebner AR, Wang C, Quinlan K, Seubert L.

Behav Res Methods. 2016 Dec;48(4):1443-1453.

PMID:
26487053
37.

Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects.

Petersen JA, Kuntzer T, Fischer D, von der Hagen M, Huebner A, Kana V, Lobrinus JA, Kress W, Rushing EJ, Sinnreich M, Jung HH.

BMC Neurol. 2015 Oct 6;15:182. doi: 10.1186/s12883-015-0449-3.

38.

In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11.

Varga RE, Khundadze M, Damme M, Nietzsche S, Hoffmann B, Stauber T, Koch N, Hennings JC, Franzka P, Huebner AK, Kessels MM, Biskup C, Jentsch TJ, Qualmann B, Braulke T, Kurth I, Beetz C, Hübner CA.

PLoS Genet. 2015 Aug 18;11(8):e1005454. doi: 10.1371/journal.pgen.1005454. eCollection 2015 Aug.

39.

The nucleoporin ALADIN regulates Aurora A localization to ensure robust mitotic spindle formation.

Carvalhal S, Ribeiro SA, Arocena M, Kasciukovic T, Temme A, Koehler K, Huebner A, Griffis ER.

Mol Biol Cell. 2015 Oct 1;26(19):3424-38. doi: 10.1091/mbc.E15-02-0113. Epub 2015 Aug 5.

40.

Low bone mineral density for age/osteoporosis in triple A syndrome-an overlooked symptom of unexplained etiology.

Dumic M, Putarek NR, Kusec V, Barisic N, Koehler K, Huebner A.

Osteoporos Int. 2016 Feb;27(2):521-6. doi: 10.1007/s00198-015-3265-0. Epub 2015 Aug 5.

PMID:
26243364
41.

Lineage conversion induced by pluripotency factors involves transient passage through an iPSC stage.

Bar-Nur O, Verheul C, Sommer AG, Brumbaugh J, Schwarz BA, Lipchina I, Huebner AJ, Mostoslavsky G, Hochedlinger K.

Nat Biotechnol. 2015 Jul;33(7):761-8. doi: 10.1038/nbt.3247. Epub 2015 Jun 22.

42.

Regulation of endoplasmic reticulum turnover by selective autophagy.

Khaminets A, Heinrich T, Mari M, Grumati P, Huebner AK, Akutsu M, Liebmann L, Stolz A, Nietzsche S, Koch N, Mauthe M, Katona I, Qualmann B, Weis J, Reggiori F, Kurth I, Hübner CA, Dikic I.

Nature. 2015 Jun 18;522(7556):354-8. doi: 10.1038/nature14498. Epub 2015 Jun 3.

PMID:
26040720
43.

Organ-specific Neurodegeneration in Triple A syndrome-related Achalasia.

Zimmer V, Vanderwinden JM, Zimmer A, Ostertag D, Strittmatter M, Koehler K, Huebner A, Lammert F.

Am J Med. 2015 Sep;128(9):e9-12. doi: 10.1016/j.amjmed.2015.04.025. Epub 2015 May 23. No abstract available.

PMID:
26007668
44.

Effects of adolescence-onset hypogonadism on metabolism, bone mineral density and quality of life in adulthood.

Tam FI, Huebner A, Hofbauer LC, Rohayem J.

J Pediatr Endocrinol Metab. 2015 Sep;28(9-10):1047-55. doi: 10.1515/jpem-2015-0005.

PMID:
25894640
45.

Role of ALADIN in human adrenocortical cells for oxidative stress response and steroidogenesis.

Jühlen R, Idkowiak J, Taylor AE, Kind B, Arlt W, Huebner A, Koehler K.

PLoS One. 2015 Apr 13;10(4):e0124582. doi: 10.1371/journal.pone.0124582. eCollection 2015.

46.

Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty.

Bustanji H, Sahar B, Huebner A, Ajlouni K, Landgraf D, Hamamy H, Koehler K.

J Pediatr Endocrinol Metab. 2015 Jul;28(7-8):933-6. doi: 10.1515/jpem-2014-0401.

PMID:
25781531
47.

Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient.

Kobus K, Hartl D, Ott CE, Osswald M, Huebner A, von der Hagen M, Emmerich D, Kühnisch J, Morreau H, Hes FJ, Mautner VF, Harder A, Tinschert S, Mundlos S, Kolanczyk M.

PLoS One. 2015 Mar 16;10(3):e0119030. doi: 10.1371/journal.pone.0119030. eCollection 2015.

48.

Re-evaluation of the amplitude-force relationship of trunk muscles.

Huebner A, Faenger B, Scholle HC, Anders C.

J Biomech. 2015 Apr 13;48(6):1198-205. doi: 10.1016/j.jbiomech.2015.02.016. Epub 2015 Feb 24.

PMID:
25757667
49.

Two novel nebulin variants in an adult patient with congenital nemaline myopathy.

Güttsches AK, Dekomien G, Claeys KG, von der Hagen M, Huebner A, Kley RA, Kirschner J, Vorgerd M.

Neuromuscul Disord. 2015 May;25(5):392-6. doi: 10.1016/j.nmd.2015.01.013. Epub 2015 Feb 3.

PMID:
25740301
50.

Alteration of Surface EMG amplitude levels of five major trunk muscles by defined electrode location displacement.

Huebner A, Faenger B, Schenk P, Scholle HC, Anders C.

J Electromyogr Kinesiol. 2015 Apr;25(2):214-23. doi: 10.1016/j.jelekin.2014.11.008. Epub 2014 Dec 10.

PMID:
25542505

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